Nephrological Outcome and Associated Congenital Anomalies in Pediatric Patients with Horseshoe Kidney

A retrospective, observational multicentre trial on the nephrological outcome and associated congenital anomalies in children with Horseshoe Kidney.

Study Overview

• Status: Recruiting
• Conditions: Horseshoe Kidney

Detailed Description

Congenital abnormalities of the kidney and urinary tract (CAKUT) represent the main cause of CKD in children. Among them, the horseshoe kidney (HSK) represents one of the most frequent and is characterised by the presence of two distinct, functioning kidneys positioned on each side of the spine, fused together at one of the poles. The incidence of this condition is approximately 1 case every 400-600 new births with a prevalence in the male sex with a ratio of 2:1. Even though these children aregenerally asymptomatic and the diagnosis is often incidental , some may develop symptoms due to complications, such as infections, nephrolithiasis and urinary tract obstruction. More rarely risks of neoplastic degeneration and renal damage are described following trauma to the abdomen and lumbosacral spine. This condition is also associated in up to a third of cases with other abnormalities: the most frequent affect the urinary tract and genitals; however, abnormalities affecting other organs or systems as well as well-defined syndromic pictures. Due to its frequent asymptomatic nature, horseshoe kidney is historically considered a condition with a good prognosis and rarely as a risk factor capable of reducing survival or predisposing the kidney to long-term damage.

The primary objective of the study is:

To assess the 'nephrological outcome' understood as 'prevalence of patients who developed' and 'survival time free from": chronic renal failure, proteinuria, hypertension nephrolithiasis, UTI, renal neoplasms and renal trauma.

The secondary objectives of the study are:

1. Prevalence of congenital and associated genito-urinary and systemic abnormalities;
2. Description of renal anatomical features;
3. Assessment of the usefulness of second level radiological investigations (VCUG, static renal scintigraphy, ddynamic renal scintigraphy).

• Study Type: Observational
• Enrollment (Estimated): 500

Contacts and Locations

• Study Contact: Name: Claudio La Scola, MD, PhD; Phone Number: 00390512144650; Email: claudio.lascola@aosp.bo.it

Study Locations

• Italy
  • Bologna, Italy, 40138
    • Recruiting
    • IRCCS Azienda Ospedaliero-Universitaria di Bologna
    • Contact: Claudio La Scola, MD, PhD; Phone Number: 00390512144650; Email: claudio.lascola@aosp.bo.it
    • Contact: Claudio La Scola

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients followed at the participating centres from 01/01/2012 to 31/12/2021 for a nephro-urological pathology will be enrolled in the study.

Description

Inclusion Criteria:

• Patients with confirmed ultrasound and/or scintigraphic diagnosis of horseshoe kidney;
• Patients with an age at first assessment of between 0 and 18 years;
• Obtaining written Informed consent.

Exclusion Criteria:

• Patients with a definitive diagnosis of another form of CAKUT during the diagnostic pathway.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Chronic kidney disease	Defined as a reduction in eGFR <90ml/min/1.73m2, calculated using the Schwartz formula(18) corrected for age: δ= 0.45 for children <1 yr; δ= 0.55 for children of both sexes from 2 to 12 yrs and for female children aged 13 to 18 yrs; δ= 0.70 for children aged 13 to 18 yrs The different stages of chronic kidney have been further defined according to eGFR: Stage I: >90ml/min/1.73m2; Stage II: between 89 and 60ml/min/1.73m2; Stage III: between 59 and 30ml/min/1.73m2; Stage IV: between 30 and 15ml/min/1.73m2; Stadio V: lower than15ml/min/1.73m2 or patient in dialysis	at baseline
Proteinuria	Defined as the urinary protein:creatinine ratio (mg/mg) >0.5 in chilrden up to 2 yrs of age and >0.2 in chilrden older than 2 yrs	at baseline
Hypertension	Arterial blood pressure ≥95th percentile for sex, age and height, on at least three different readings	at baseline

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Urinary tract infections	Confirmed by urine analysis and urine culture in a compatible clinical picture	at baseline
Nephrolithiasis	Documented finding by imaging techniques (ultrasound and/or CT) of formations compatible with lithiasis formation	at baseline
Renal neoplasms	Diagnosis confirmed by imaging and histology of the neoplasm of renal origin (especially Wilms' tumour)	at baseline
Renal anatomical features	Renal length measured as bipolar diameter with renal hypoplasia defined as the presence of kidneys with DBP <5° centile reference for age and height	at baseline
Renal anatomical features	Ultrasound description of abnormalities of the renal parenchyma with renal dysplasia defined by the presence of alterations such as: hyperechogenicity, reduced cortico-middular differentiation, reduced cortical thickness due to age, presence of multiple cystic formations	at baseline
Renal trauma	Presence of instrumentally documented renal lesions (ultrasound and/or CT scan) following a traumatic episode	at baseline

Collaborators and Investigators

• Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna
• Investigators: Principal Investigator: Claudio La Scola, MD, PhD, IRCCS Azienda Ospedaliero-Universitaria di Bologna

Study record dates

Study Major Dates

• Study Start (Estimated): June 1, 2025
• Primary Completion (Estimated): June 1, 2026
• Study Completion (Estimated): June 1, 2026

Study Registration Dates

• First Submitted: December 3, 2024
• First Submitted That Met QC Criteria: December 6, 2024
• First Posted (Estimated): December 11, 2024

Study Record Updates

• Last Update Posted (Estimated): December 11, 2024
• Last Update Submitted That Met QC Criteria: December 6, 2024
• Last Verified: November 1, 2024

More Information

Terms related to this study

• Keywords: Children; CAKUT; Horseshoe Kidney; Congenital anomalies
• Additional Relevant MeSH Terms: Urogenital Diseases; Male Urogenital Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Abnormalities; Fused Kidney; Congenital Abnormalities
• Other Study ID Numbers: HSK-PED-23-01

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No